Related Experiment Videos
DIDMOAD syndrome; further studies and muscle biochemistry
T G Barrett1, K Poulton, S Bundey
1Department of Clinical Genetics, Birmingham Maternity Hospital, UK.
Journal of Inherited Metabolic Disease
|January 1, 1995
Abstract
No abstract available in PubMed .
Related Concept Videos
Articles linked to this work by shared authors, journal, and citation graph.
B-cell depletion abrogates immune mediated cytopenia and rejection of cord blood transplantation in Hurler syndrome.
Bone marrow transplantation·2021
Continuing rise of Type 2 diabetes incidence in children and young people in the UK.
Diabetic medicine : a journal of the British Diabetic Association·2018
BSHI Guideline: HLA matching and donor selection for haematopoietic progenitor cell transplantation.
International journal of immunogenetics·2016
An Optimized Diagnostic Approach for Adults With Suspected Inherited Metabolic Disorders.
Journal of inherited metabolic disease·2026
Occurrence of Infusion Associated Reactions and Antidrug Antibodies in Enzyme Replacement Therapy for Fabry Disease and the Effect of Preventive Measures.
Journal of inherited metabolic disease·2026
From Common Pathway to Divergent Diseases: Metabolic Aspects of Inborn Errors of CoA Biosynthesis.
Journal of inherited metabolic disease·2026
Proteo-Metabolomic Profiling of PMM2-CDG Reveals Dysregulation of Retinoic Acid Synthesis, Myo-Inositol, and the Hexosamine Pathway.
Journal of inherited metabolic disease·2026
High-Protein Diet Ameliorates Cardiomyopathy in a Cardiac-Specific AGL Knockout Mouse Model: Association With Upregulated Hepatic Gluconeogenesis.
Journal of inherited metabolic disease·2026
Behavioral Phenotyping of the Pahenu2 Mouse Model for Phenylketonuria-A Scoping Review and Future Perspectives.
Journal of inherited metabolic disease·2026
Biomarkers in facioscapulohumeral muscular dystrophy.
Current opinion in neurology·2026
Impact of Menopause and Menopausal Hormone Therapy on Liver-Kidney-Metabolic Health.
Advances in therapy·2026
Multi-organ proteomic atlas of obesity regression in male mice.
Nature metabolism·2026
Mitochondria-targeted natural products with potential for the treatment of mitochondria-related diseases.
Chinese journal of natural medicines·2026